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Characterization of Usher Syndrome Type 1 Heterogeneity by Genetic and Phenotypic Analyses
(Creighton University, 2002)
Patients with Usher syndrome type I suffer from sensorineural hearing impairment, retinal degeneration and often, vestibular dysfunction. Significant genetic heterogeneity exists as seven different genes are currently ...
Molecular Genetics of Usher Syndrome: Mutation Screening Studies and Discovery of the Usher Syndrome Type IIC Gene, the Very Large G-Protein Coupled Receptor (VLGR1).
(Creighton University, 2004-04)
Usher Syndrome is an inherited human disease of progressive visual impairment diagnosed as retinitis pigmentosa (RP) combined with congenital sensorineural hearing loss and manifests as one of 3 recognized clinical subtypes. ...
Clinical and Molecular Characterization of Auditory Neuropathy
(Creighton University, 2003)
Auditory Neuropathy (AN) is diagnosed when the auditory brainstem response (ABR) is absent and outer hair cells (OHC) function normally, which indicates that the lesion lies in the inner hair cells (IHC), their afferent ...